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https://www.readbyqxmd.com/read/28230711/asperger-syndrome-and-early-onset-schizophrenia-associated-with-a-novel-mecp2-deleterious-missense-variant
#1
Aurore Curie, Gaëtan Lesca, Gérald Bussy, Sabine Manificat, Valérie Arnaud, Sibylle Gonzalez, Olivier Revol, Alain Calender, Daniel Gérard, Vincent des Portes
Methyl-CpG-binding protein 2 (MECP2) deleterious variants, which are responsible for Rett syndrome in girls, are involved in a wide spectrum of developmental disabilities in males. A neuropsychiatric phenotype without intellectual disability is uncommon in patients with MECP2 deleterious variants. We report on two dizygotic twins with an MECP2-related psychiatric disorder without intellectual disability. Neuropsychological and psychiatric phenotype assessments were performed, and a genetic analysis was carried out...
February 22, 2017: Psychiatric Genetics
https://www.readbyqxmd.com/read/28230428/improving-the-care-of-children-with-learning-disabilities-in-hospital
#2
Alan Glasper
Emeritus Professor Alan Glasper, from the University of Southampton, discusses care delivery for children with learning disabilities or autism who require a hospital stay, prompted by the recent Lenehan report.
February 23, 2017: British Journal of Nursing: BJN
https://www.readbyqxmd.com/read/28230307/cdkl5-deficiency-entails-sleep-apneas-in-mice
#3
Viviana Lo Martire, Sara Alvente, Stefano Bastianini, Chiara Berteotti, Alessandro Silvani, Alice Valli, Rocchina Viggiano, Elisabetta Ciani, Giovanna Zoccoli
A recently discovered neurodevelopmental disorder caused by the mutation of the cyclin-dependent kinase-like 5 gene (CDKL5) entails complex autistic-like behaviours similar to Rett syndrome, but its impact upon physiological functions remains largely unexplored. Sleep-disordered breathing is common and potentially life-threatening in patients with Rett syndrome; however, evidence is limited in children with CDKL5 disorder, and is lacking altogether in adults. The aim of this study was to test whether the breathing pattern during sleep differs between adult Cdkl5 knockout (Cdkl5-KO) and wild-type (WT) mice...
February 23, 2017: Journal of Sleep Research
https://www.readbyqxmd.com/read/28229923/epigenetic-regulation-of-reln-and-gad1-in-the-frontal-cortex-fc-of-autism-spectrum-disorder-asd-subjects
#4
Adrian Zhubi, Ying Chen, Alessandro Guidotti, Dennis R Grayson
Both Reelin (RELN) and glutamate decarboxylase 67 (GAD1) have been implicated in the pathophysiology of Autism Spectrum Disorders (ASD). We have previously shown that both mRNAs are reduced in the cerebella (CB) of ASD subjects through a mechanism that involves increases in the amounts of MECP2 binding to the corresponding promoters. In the current study, we examined the expression of RELN, GAD1, GAD2, and several other mRNAs implicated in this disorder in the frontal cortices (FC) of ASD and CON subjects. We also focused on the role that epigenetic processes play in the regulation of these genes in ASD brain...
February 13, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28229395/transcranial-magnetic-and-direct-current-stimulation-in-children
#5
REVIEW
Mustafa Q Hameed, Sameer C Dhamne, Roman Gersner, Harper L Kaye, Lindsay M Oberman, Alvaro Pascual-Leone, Alexander Rotenberg
Promising results in adult neurologic and psychiatric disorders are driving active research into transcranial brain stimulation techniques, particularly transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), in childhood and adolescent syndromes. TMS has realistic utility as an experimental tool tested in a range of pediatric neuropathologies such as perinatal stroke, depression, Tourette syndrome, and autism spectrum disorder (ASD). tDCS has also been tested as a treatment for a number of pediatric neurologic conditions, including ASD, attention-deficit/hyperactivity disorder, epilepsy, and cerebral palsy...
February 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28229350/-set-in-stone-or-ray-of-hope-parents-beliefs-about-cause-and-prognosis-after-genomic-testing-of-children-diagnosed-with-asd
#6
Marian Reiff, Eva Bugos, Ellen Giarelli, Barbara A Bernhardt, Nancy B Spinner, Pamela L Sankar, Surabhi Mulchandani
Despite increasing utilization of chromosomal microarray analysis (CMA) for autism spectrum disorders (ASD), limited information exists about how results influence parents' beliefs about etiology and prognosis. We conducted in-depth interviews and surveys with 57 parents of children with ASD who received CMA results categorized as pathogenic, negative or variant of uncertain significance. Parents tended to incorporate their child's CMA results within their existing beliefs about the etiology of ASD, regardless of CMA result...
February 22, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28229348/brief-report-using-ipads-for-self-monitoring-of-students-with-autism
#7
Joy F Xin, Mary E Sheppard, Michelle Brown
This study examined the effect of using an iPad for students with autism spectrum disorder (ASD) on self-monitoring their behaviors in class. Four students with ASD were taught on-task behaviors by watching self-modeled video saved in the application "Choiceworks" on their iPads, and collected data on their own behaviors. A single subject research design with ABAB phases was used. Student behaviors were observed using interval recording and behavioral occurrences were compared across phases. Results showed that the participating students' on-task behaviors (e...
February 22, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28229097/pediatric-hypovitaminosis-d-molecular-perspectives-and-clinical-implications
#8
Rafiu Ariganjoye
Vitamin D, a secosteroid, is essential for the development and maintenance of healthy bone in both the adult and pediatric populations. Low level of 25-hydroxy vitamin D (25-(OH)-D) is highly prevalent in children worldwide and has been linked to various adverse health outcomes including rickets, osteomalacia, osteomalacic myopathy, sarcopenia, and weakness, growth retardation, hypocalcemia, seizure and tetany, autism, cardiovascular diseases, diabetes mellitus, cancers (prostate, colon, breast), infectious diseases (viral, tuberculosis), and autoimmune diseases, such as multiple sclerosis and Hashimoto's thyroiditis...
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/28228533/fragile-phagocytes-fmrp-positively-regulates-engulfment-activity
#9
Mary A Logan
Defective immune system function is implicated in autism spectrum disorders, including Fragile X syndrome. In this issue, O'Connor et al. (2017. J. Cell Biol. https://doi.org/10.1083/jcb.201607093) demonstrate that phagocytic activity of systemic immune cells is compromised in a Drosophila melanogaster model of Fragile X, highlighting intriguing new mechanistic connections between FMRP, innate immunity, and abnormal development.
February 22, 2017: Journal of Cell Biology
https://www.readbyqxmd.com/read/28228185/knowledge-of-childhood-materiality-text-and-the-history-of-science-an-interdisciplinary-round-table-discussion
#10
Felix Rietmann, Mareike Schildmann, Caroline Arni, Daniel Thomas Cook, Davide Giuriato, Novina Göhlsdorf, Wangui Muigai
This round table discussion takes the diversity of discourse and practice shaping modern knowledge about childhood as an opportunity to engage with recent historiographical approaches in the history of science. It draws attention to symmetries and references among scientific, material, literary and artistic cultures and their respective forms of knowledge. The five participating scholars come from various fields in the humanities and social sciences and allude to historiographical and methodological questions through a range of examples...
February 23, 2017: British Journal for the History of Science
https://www.readbyqxmd.com/read/28227875/smart-autism-a-mobile-interactive-and-integrated-framework-for-screening-and-confirmation-of-autism
#11
Khondaker Abdullah Al Mamun, Sharmistha Bardhan, Md Anwar Ullah, Evdokia Anagnostou, Jessica Brian, Shaheen Akhter, Mohammod Golam Rabbani, Khondaker Abdullah Al Mamun, Sharmistha Bardhan, Md Anwar Ullah, Evdokia Anagnostou, Jessica Brian, Shaheen Akhter, Mohammod Golam Rabbani, Evdokia Anagnostou, Sharmistha Bardhan, Shaheen Akhter, Md Anwar Ullah, Mohammod Golam Rabbani, Jessica Brian, Khondaker Abdullah Al Mamun
Smart Autism is a cloud based, automated framework for autism screening and confirmation. In developing countries, due to lack of resources and expertise, autism is detected later than early ages which consequently delays timely intervention. Therefore a mobile, interactive and integrated framework is proposed to screen and confirm autism in different age group (0 to 17 years) with 3 layers of assessment process. Firstly, it screens by evaluating the responses of pictorial based screening questionnaire through mobile application...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28227612/bed-based-instrumentation-for-unobtrusive-sleep-quality-assessment-in-severely-disabled-autistic-children
#12
Charles Carlson, Ahmad Suliman, Punit Prakash, David Thompson, Shangxian Wang, Bala Natarajan, Steve Warren, Charles Carlson, Ahmad Suliman, Punit Prakash, David Thompson, Shangxian Wang, Bala Natarajan, Steve Warren, Shangxian Wang, Punit Prakash, Bala Natarajan, David Thompson, Charles Carlson, Steve Warren, Ahmad Suliman
The relationship between sleep quality and daytime wellness and performance in severely disabled, autistic children is not well understood. While polysomnography and, more recently, actigraphy serve as means to obtain sleep assessment data from neurotypical children and adults, these techniques are not well-suited to severely autistic children. This paper presents recent progress on a bed sensor suite that can unobtrusively track physiological and behavioral parameters used to assess sleep quality. Electromechanical films and load cells provide data that yield heart rate, respiration rate, center of position, in-and-out-of-bed activity, and general movement, while thermocouples are used to detect bed-wetting events...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28227229/ensemble-statistical-and-subspace-clustering-model-for-analysis-of-autism-spectrum-disorder-phenotypes
#13
Khalid Al-Jabery, Tayo Obafemi-Ajayi, Gayla R Olbricht, T Nicole Takahashi, Stephen Kanne, Donald Wunsch, Khalid Al-Jabery, Tayo Obafemi-Ajayi, Gayla R Olbricht, T Nicole Takahashi, Stephen Kanne, Donald Wunsch, Donald Wunsch, Tayo Obafemi-Ajayi, Khalid Al-Jabery, Stephen Kanne, Gayla R Olbricht, T Nicole Takahashi
Heterogeneity in Autism Spectrum Disorder (ASD) is complex including variability in behavioral phenotype as well as clinical, physiologic, and pathologic parameters. The fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) now diagnoses ASD using a 2-dimensional model based social communication deficits and fixated interests and repetitive behaviors. Sorting out heterogeneity is crucial for study of etiology, diagnosis, treatment and prognosis. In this paper, we present an ensemble model for analyzing ASD phenotypes using several machine learning techniques and a k-dimensional subspace clustering algorithm...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28227153/design-projects-motivated-and-informed-by-the-needs-of-severely-disabled-autistic-children
#14
Steve Warren, Punit Prakash, David Thompson, Bala Natarajan, Charles Carlson, Kim Fowler, Ed Brokesh, Jack Xin, Wayne Piersel, Janine Kesterson, Steve Stoffregen, Steve Warren, Punit Prakash, David Thompson, Bala Natarajan, Charles Carlson, Kim Fowler, Ed Brokesh, Jack Xin, Wayne Piersel, Janine Kesterson, Steve Stoffregen, Janine Kesterson, Bala Natarajan, David Thompson, Steve Stoffregen, Steve Warren, Kim Fowler, Jack Xin, Punit Prakash, Charles Carlson, Wayne Piersel
Technology can positively impact the lives of severely disabled autistic children if used to (a) gather situational awareness data regarding their health, development, and behavior and (b) assist them with learning and day-to-day activities. This paper summarizes student design projects in the Kansas State University (KSU) College of Engineering that are motivated and informed by the needs of severely disabled children at Heartspring, Wichita, KS. These efforts are supported through the National Science Foundation's General and Age-Related Disabilities Engineering (GARDE) program...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28227039/amp-a-platform-for-managing-and-mining-data-in-the-treatment-of-autism-spectrum-disorder
#15
Erik Linstead, Ryan Burns, Duy Nguyen, David Tyler, Erik Linstead, Ryan Burns, Duy Nguyen, David Tyler, Erik Linstead, Duy Nguyen, Ryan Burns, David Tyler
We introduce AMP (Autism Management Platform), an integrated health care information system for capturing, analyzing, and managing data associated with the diagnosis and treatment of Autism Spectrum Disorder in children. AMP's mobile application simplifies the means by which parents, guardians, and clinicians can collect and share multimedia data with one another, facilitating communication and reducing data redundancy, while simplifying retrieval. Additionally, AMP provides an intelligent web interface and analytics platform which allow physicians and specialists to aggregate and mine patient data in real-time, as well as give relevant feedback to automatically learn data filtering preferences over time...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28225070/speech-specific-categorical-perception-deficit-in-autism-an-event-related-potential-study-of-lexical-tone-processing-in-mandarin-speaking-children
#16
Xiaoyue Wang, Suiping Wang, Yuebo Fan, Dan Huang, Yang Zhang
Recent studies reveal that tonal language speakers with autism have enhanced neural sensitivity to pitch changes in nonspeech stimuli but not to lexical tone contrasts in their native language. The present ERP study investigated whether the distinct pitch processing pattern for speech and nonspeech stimuli in autism was due to a speech-specific deficit in categorical perception of lexical tones. A passive oddball paradigm was adopted to examine two groups (16 in the autism group and 15 in the control group) of Chinese children's Mismatch Responses (MMRs) to equivalent pitch deviations representing within-category and between-category differences in speech and nonspeech contexts...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28224614/neurobehavioural-vulnerability-and-autistic-traits-in-rasopathies
#17
Yves Sznajer
No abstract text is available yet for this article.
February 22, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28224345/electrophysiological-endophenotypes-and-the-error-related-negativity-ern-in-autism-spectrum-disorder-a-family-study
#18
Ann Clawson, Mikle South, Scott A Baldwin, Michael J Larson
We examined the error-related negativity (ERN) as an endophenotype of ASD by comparing the ERN in families of ASD probands to control families. We hypothesized that ASD probands and families would display reduced-amplitude ERN relative to controls. Participants included 148 individuals within 39 families consisting of a mother, father, sibling, and proband. Robust ANOVAs revealed non-significant differences in ERN amplitude and behavioral performance among ASD probands relative to control youth. In subsequent multiple regression analyses group and kinship (proband, sibling, mother, father) did not significantly predict ΔERN (error minus correct ERN) or behavioral performance...
February 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28224344/brief-report-characteristics-of-preschool-children-with-asd-vary-by-ascertainment
#19
Lori-Ann R Sacrey, Lonnie Zwaigenbaum, Peter Szatmari, Susan Bryson, Stelios Georgiades, Jessica Brian, Isabel M Smith, Tracy Vaillancourt, Nancy Garon, Caroline Roncadin, Mayada Elsabbagh
Prospective studies of infant siblings of children diagnosed with autism spectrum disorder (ASD) provide a unique opportunity to characterize ASD as it unfolds. A critical question that remains unanswered is whether and how these children with ASD resemble other children identified from the community, including those with no family history. The purpose of this study was to compare clinical characteristics of children with ASD identified by each method (n = 86 per group), drawn from two Canadian longitudinal research cohorts...
February 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28224095/culturally-adapted-pictorial-screening-tool-for-autism-spectrum-disorder-a-new-approach
#20
Hemamali Perera, Kamal Chandima Jeewandara, Sudarshi Seneviratne, Chandima Guruge
AIM: To assess the performance of a newly designed, culturally adapted screening tool for autism spectrum disorder (ASD). METHODS: Items for the screening tool were modeled from already documented checklists and diagnostic criteria for ASD. Each item in text was paired with a photograph that illustrated the written content, which was in the 2 main local languages. The final product had 21 items and was named the pictorial autism assessment schedule (PAAS). Performance of PAAS was tested on a clinical sample of 18-48 mo old children, diagnosis naïve, presenting with developmental deficits...
February 8, 2017: World Journal of Clinical Pediatrics
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